Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5265A>G
p.Ile1755Met (Legacy AA No. 1727)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 16
Variant Effect:
Missense
Codon Change:
5265A>G
No. of Patients Reported:
5
Phenotype:
NA
Association:
Unknown
Allele Count *:
275
Allele Number *:
282198
Allele Frequency *:
0.000974
References and Comments:
NCBI Clinvar Variation ID: 579171NA